Biology subjects

Schiffels, S.

Publications and source records attributed to Schiffels, S..

15 recordsLinked to original sources

bioRxiv2026

Inferring Migration Networks with Time-Lagged F2 Statistics

Major demographic events, such as population bottlenecks, founder effects, range expansions, and admixture events, have left lasting imprints on human genetic diversity. Ancient DNA (aDNA) sequencing now makes it increasingly possible to observe these signals across time, opening new avenues to address long-standing questions in human demographic history. Yet, deciphering this genetic archive of demographic history is challenging due to high levels of noise, and the complex ways in which demographic processes shape genetic variation. Here, leveraging the linear time evolution of the expectation of neutral allele frequencies, we develop a method to uncover systematic patterns of gene flow from metapopulation time-series data. We show that directional migration rates can be inferred via linear regression on time-dependent genetic dissimilarity between populations, quantified by an extended F2 statistic evaluated between successive time points. Despite small sample sizes, the method reliably infers migration rates from simulated data by integrating information across multiple time slices. Applied to aDNA sampled from the last 6000 years, we recover signals of well-documented migrations and infer an ancient pan-European migration network. While complementing existing tools that estimate static ancestry proportions, our framework tracks how ancestry is dynamically redistributed through time.

evolutionary biology↗

bioRxiv2025

High resolution analysis of population structure using rare variants

Various statistical methods have been developed to identify population structure from genetic data, including F-statistics, which measure the average correlation in allele frequency differences between two pairs of populations. However, the SNPs analyzed with F-statistics are often limited to those found as part of microarrays or, in the case of ancient DNA, to SNP capture panels, which are those within the common allele frequency band. Recent advances in sequencing technology increasingly allow generating whole-genome sequencing data, both ancient and modern, which not only enable querying nearly every base of the genome, but also contain numerous rare variants. Rare variants, with their more population-specific distribution, allow detection of population structure with much finer resolution than common variants - an opportunity that has so far been under-exploited. Here, we develop a new statistical method, RAS (Rare Allele Sharing), for summarizing rare allele frequency correlations, similar to F-statistics but with flexible ascertainment on allele frequencies. We test RAS on both published and simulated data and find that RAS has better resolution in distinguishing populations, with appropriate ascertainment. Leveraging this, we further develop the use of RAS to compute ancestry proportions with higher accuracy than existing methods, in cases of closely-related source populations. We implemented the new statistical methods as an R package and a command line tool. In summary, our method can provide new perspectives to identify and model population structure, allowing us to understand more subtle relationships among populations in the recent human past.

genetics↗

bioRxiv2024

Poseidon - A framework for archaeogenetic human genotype data management

1The study of ancient human genomes, archaeo- or palaeogenetics, has accelerated in the last ten years, with now thousands of new ancient genomes being released each year. Operating at the interface of genetics, anthro-pology and archaeology, this data includes features from all three fields, including rich meta- and context-data, for example regarding spatiotemporal provenience. While archives and standards for genetic sequencing data al-ready exist, no such infrastructure exists for combined genetic and meta-data that could ensure FAIR principles across the field. Here, we present Poseidon, a framework for open and FAIR data handling in archaeogenetics, including a specified package format, software tools, and public, community-maintained online archives. Poseidon emphasises human- and machine-readable data storage, the development of convenient and interoperable command line software, and a high degree of source granularity to elevate the original data publication to the main unit of long-term curation.

genetics↗

bioRxiv2023

Bronze Age Northern Eurasian Genetics in the Context of Development of Metallurgy and Siberian Ancestry

The Eurasian Bronze Age (BA) has been described as a period of substantial human migrations, the emergence of pastoralism, horse domestication, and development of metallurgy. This study focuses on individuals associated with BA metallurgical production, specifically the Seima-Turbino (ST) phenomenon ([~]2,200-1,900 BCE) associated with elaborate metal objects found across Northern Eurasia. The genetic profiles of nine ST-associated individuals vary widely ranging between ancestries maximized in individuals from the Eastern Siberian Late Neolithic/BA, and those of the Western Steppe Middle Late BA. The genetic heterogeneity observed is consistent with the current understanding of the ST metallurgical network as a transcultural phenomenon. The new data also shed light on the temporal and spatial range of an ancient Siberian genetic ancestry component, which is shared across many Uralic-speaking populations, and which we explore further via demographic modeling using additional genome-wide (2 individuals) and whole genome data (5 individuals, including a [~]30x genome) from northwestern Russia.

genetics↗

bioRxiv2022

Genome-wide data from medieval German Jews show that the Ashkenazi founder event pre-dated the 14th century

We report genome-wide data for 33 Ashkenazi Jews (AJ), dated to the 14th century, following a salvage excavation at the medieval Jewish cemetery of Erfurt, Germany. The Erfurt individuals are genetically similar to modern AJ and have substantial Southern European ancestry, but they show more variability in Eastern European-related ancestry than modern AJ. A third of the Erfurt individuals carried the same nearly-AJ-specific mitochondrial haplogroup and eight carried pathogenic variants known to affect AJ today. These observations, together with high levels of runs of homozygosity, suggest that the Erfurt community had already experienced the major reduction in size that affected modern AJ. However, the Erfurt bottleneck was more severe, implying substructure in medieval AJ. Together, our results suggest that the AJ founder event and the acquisition of the main sources of ancestry pre-dated the 14th century and highlight late medieval genetic heterogeneity no longer present in modern AJ.

genetics↗

bioRxiv2021

Estimating human mobility in Holocene Western Eurasia with large-scale ancient genomic data

The recent increase in openly available ancient human DNA samples allows for new, large-scale meta analysis applications. Trans-generational past human mobility is one of the key aspects that ancient genomics can contribute to, since changes in ancestry - unlike cultural changes seen in the archaeological record - necessarily reflect movements of people. Here we present a new algorithm to quantify past human mobility from large ancient genomic datasets. The key idea of the method is for each individual to compare a hypothetical genetic "origin" point with its actual burial point in space. This is achieved by first creating an interpolated ancestry field through space and time based on Multidimensional scaling and Gaussian process regression, and then using this field to map the ancient individuals into space according to their genetic profile. We apply this new algorithm to a dataset of 3191 aDNA samples with genome-wide data from Western Eurasia in the last 10,000 years and derive a diachronic measure of mobility for subregions in Western, Central, Southern and Eastern Europe. For regions and periods with sufficient data coverage, our mobility estimates show general concordance with previous results, but also reveal new signals of movements beyond the well-known key events. Significance StatementAncient human DNA (aDNA) extracted from archaeological contexts (e.g. burials) allows to reconstruct past population movements. Relevant methods work by calculating proportions of shared ancestry among individuals or groups in order to answer specific, regional research questions. Here, we propose a largescale algorithm to quantify human mobility through time and space using bulk aDNA data. The algorithm has two core components: i) Interpolation of the spatio-temporal distribution of genetic ancestry to obtain a continuous ancestry information field and ii) estimation of the spatial origin of each input sample by projecting its ancestry into this field. We apply this to thousands of published genomic samples in the last 10,000 years to trace diachronic mobility patterns across Western Eurasia.

genomics↗

bioRxiv2020

The genomic formation of First American ancestors in East and Northeast Asia

Upward Sun River 1, an individual from a unique burial of the Denali tradition in Alaska (11500 calBP), is considered a type representative of Ancient Beringians who split from other First Americans 22000-18000 calBP in Beringia. Using a new admixture graph model-comparison approach resistant to overfitting, we show that Ancient Beringians do not form the deepest American lineage, but instead harbor ancestry from a lineage more closely related to northern North Americans than to southern North Americans. Ancient Beringians also harbor substantial admixture from a lineage that did not contribute to other Native Americans: Amur River Basin populations represented by a newly reported site in northeastern China. Relying on these results, we propose a new model for the genomic formation of First American ancestors in Asia. One Sentence SummaryAncient Beringians do not form the deepest American lineage, but harbor admixture from Amur River Basin populations.

genetics↗

bioRxiv2020

A dynamic 6,000-year genetic history of Eurasia's Eastern Steppe

The Eastern Eurasian Steppe was home to historic empires of nomadic pastoralists, including the Xiongnu and the Mongols. However, little is known about the regions population history. Here we reveal its dynamic genetic history by analyzing new genome-wide data for 214 ancient individuals spanning 6,000 years. We identify a pastoralist expansion into Mongolia ca. 3000 BCE, and by the Late Bronze Age, Mongolian populations were biogeographically structured into three distinct groups, all practicing dairy pastoralism regardless of ancestry. The Xiongnu emerged from the mixing of these populations and those from surrounding regions. By comparison, the Mongols exhibit much higher Eastern Eurasian ancestry, resembling present-day Mongolic-speaking populations. Our results illuminate the complex interplay between genetic, sociopolitical, and cultural changes on the Eastern Steppe.

genomics↗

bioRxiv2020

Genomic and dietary transitions during the Mesolithic and Early Neolithic in Sicily

Southern Italy is a key region for understanding the agricultural transition in the Mediterranean due to its central position. We present a genomic transect for 19 prehistoric Sicilians that covers the Early Mesolithic to Early Neolithic period. We find that the Early Mesolithic hunter-gatherers (HGs) are a highly drifted sister lineage to Early Holocene western European HGs, whereas a quarter of the Late Mesolithic HGs ancestry is related to HGs from eastern Europe and the Near East. This indicates substantial gene flow from (south-)eastern Europe between the Early and Late Mesolithic. The Early Neolithic farmers are genetically most similar to those from the Balkan and Greece, and carry only a maximum of [~]7% ancestry from Sicilian Mesolithic HGs. Ancestry changes match changes in dietary profile and material culture, except for two individuals who may provide tentative initial evidence that HGs adopted elements of farming in Sicily. One-sentence summaryGenome-wide and isotopic data from prehistoric Sicilians reveal a pre-farming connection to (south-) eastern Europe, and tentative initial evidence that hunter-gatherers adopted some Neolithic aspects prior to near-total replacement by early farmers.

genetics↗

bioRxiv2019

Tracking human population structure through time from whole genome sequences

The genetic diversity of humans, like many species, has been shaped by a complex pattern of population separations followed by isolation and subsequent admixture. This pattern, reaching at least as far back as the appearance of our species in the paleontological record, has left its traces in our genomes. Reconstructing a populations history from these traces is a challenging problem. Here we present a novel approach based on the Multiple Sequentially Markovian Coalescent (MSMC) to analyse the population separation history. Our approach, called MSMC-IM, uses an improved implementation of the MSMC (MSMC2) to estimate coalescence rates within and across pairs of populations, and then fits a continuous Isolation-Migration model to these rates to obtain a time-dependent estimate of gene flow. We show, using simulations, that our method can identify complex demographic scenarios involving post-split admixture or archaic introgression. We apply MSMC-IM to whole genome sequences from 15 worldwide populations, tracking the process of human genetic diversification. We detect traces of extremely deep ancestry between some African populations, with around 1% of ancestry dating to divergences older than a million years ago.\n\nAuthor SummaryHuman demographic history is reflected in specific patterns of shared mutations between the genomes from different populations. Here we aim to unravel this pattern to infer population structure through time with a new approach, called MSMC-IM. Based on estimates of coalescence rates within and across populations, MSMC-IM fits a time-dependent migration model to the pairwise rate of coalescences. We implemented this approach as an extension to existing software (MSMC2), and tested it with simulations exhibiting different histories of admixture and gene flow. We then applied it to the genomes from 15 worldwide populations to reveal their pairwise separation history ranging from a few thousand up to several million years ago. Among other results, we find evidence for remarkably deep population structure in some African population pairs, suggesting that deep ancestry dating to one million years ago and older is still present in human populations in small amounts today.

evolutionary biology↗

bioRxiv2018

The genetic prehistory of the Greater Caucasus

Archaeogenetic studies have described the formation of Eurasian steppe ancestry as a mixture of Eastern and Caucasus hunter-gatherers. However, it remains unclear when and where this ancestry arose and whether it was related to a horizon of cultural innovations in the 4th millennium BCE that subsequently facilitated the advance of pastoral societies likely linked to the dispersal of Indo-European languages. To address this, we generated genome-wide SNP data from 45 prehistoric individuals along a 3000-year temporal transect in the North Caucasus. We observe a genetic separation between the groups of the Caucasus and those of the adjacent steppe. The Caucasus groups are genetically similar to contemporaneous populations south of it, suggesting that - unlike today - the Caucasus acted as a bridge rather than an insurmountable barrier to human movement. The steppe groups from Yamnaya and subsequent pastoralist cultures show evidence for previously undetected farmer-related ancestry from different contact zones, while Steppe Maykop individuals harbour additional Upper Palaeolithic Siberian and Native American related ancestry.

genomics↗

bioRxiv2018

Ancient Fennoscandian genomes reveal origin and spread of Siberian ancestry in Europe

European history has been shaped by migrations of people, and their subsequent admixture. Recently, evidence from ancient DNA has brought new insights into migration events that could be linked to the advent of agriculture, and possibly to the spread of Indo-European languages. However, little is known so far about the ancient population history of north-eastern Europe, in particular about populations speaking Uralic languages, such as Finns and Saami. Here we analyse ancient genomic data from 11 individuals from Finland and Northwest Russia. We show that the specific genetic makeup of northern Europe traces back to migrations from Siberia that began at least 3,500 years ago. This ancestry was subsequently admixed into many modern populations in the region, in particular populations speaking Uralic languages today. In addition, we show that ancestors of modern Saami inhabited a larger territory during the Iron Age than today, which adds to historical and linguistic evidence for the population history of Finland.

genomics↗

bioRxiv2017

The asexual genome of Drosophila

The rate of recombination affects the mode of molecular evolution. In high-recombining sequence, the targets of selection are individual genetic loci; under low recombination, selection collectively acts on large, genetically linked genomic segments. Selection under linkage can induce clonal interference, a specific mode of evolution by competition of genetic clades within a population. This mode is well known in asexually evolving microbes, but has not been traced systematically in an obligate sexual organism. Here we show that the Drosophila genome is partitioned into two modes of evolution: a local interference regime with limited effects of genetic linkage, and an interference condensate with clonal competition. We map these modes by differences in mutation frequency spectra, and we show that the transition between them occurs at a threshold recombination rate that is predictable from genomic summary statistics. We find the interference condensate in segments of low-recombining sequence that are located primarily in chromosomal regions flanking the centromeres and cover about 20% of the Drosophila genome. Condensate regions have characteristics of asexual evolution that impact gene function: the efficacy of selection and the speed of evolution are lower and the genetic load is higher than in regions of local interference. Our results suggest that multicellular eukaryotes can harbor heterogeneous modes and tempi of evolution within one genome. We argue that this variation generates selection on genome architecture.\n\nAuthor SummaryThe Drosophila genome is an ideal system to study how the rate of recombination affects molecular evolution. It harbors a wide range of local recombination rates, and its high-recombining parts show broad signatures of adaptive evolution. The low-recombining parts, however, have remained dark genomic matter that has been omitted from most studies on the inference of selection. Here we show that these genomic regions evolve in a different way, which involves clonal competition and is akin to the evolution of asexual systems. This regime shows a lower efficacy of selection, a lower speed of evolution, and a higher genetic load than high-recombining regions. We argue these evolutionary differences have functional consequences: protein stability and protein expression are gene traits likely to be partially compromised by low recombination rates.

genetics↗

bioRxiv2017

Paleo-Eskimo genetic legacy across North America

Paleo-Eskimos were the first people to settle vast regions of the American Arctic around 5,000 years ago, and were subsequently joined and largely displaced around 1,000 years ago by ancestors of the present-day Inuit and Yupik. The genetic relationship between Paleo-Eskimos and Native American populations remains uncertain. We analyze ancient and present-day genome-wide data from the Americas and Siberia, including new data from Alaskan Inupiat and West Siberian populations, and the first genome-wide DNA from ancient Aleutian Islanders, ancient northern Athabaskans, and a 4,250-year-old individual of the Chukotkan Ust'-Belaya culture. Employing new methods based on rare allele and haplotype sharing as well as established methods based on allele frequency correlations, we show that Paleo-Eskimo ancestry is widespread among populations who speak Na-Dene and Eskimo-Aleut languages. Using phylogenetic modelling with allele frequency correlations and rare variation, we present a comprehensive model for the complex peopling of North America.

genetics↗

bioRxiv2017

The Genetic History of Northern Europe

Recent ancient DNA studies have revealed that the genetic history of modern Europeans was shaped by a series of migration and admixture events between deeply diverged groups. While these events are well described in Central and Southern Europe, genetic evidence from Northern Europe surrounding the Baltic Sea is still sparse. Here we report genome-wide DNA data from 24 ancient North Europeans ranging from [~]7,500 to 200 calBCE spanning the transition from a hunter-gatherer to an agricultural lifestyle, as well as the adoption of bronze metallurgy. We show that Scandinavia was settled after the retreat of the glacial ice sheets from a southern and a northern route, and that the first Scandinavian Neolithic farmers derive their ancestry from Anatolia 1000 years earlier than previously demonstrated. The range of Western European Mesolithic hunter-gatherers extended to the east of the Baltic Sea, where these populations persisted without gene-flow from Central European farmers until around 2,900 calBCE when the arrival of steppe pastoralists introduced a major shift in economy and established wide-reaching networks of contact within the Corded Ware Complex.

genetics↗